Canonical Allele Identifier: CA1981490995

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71443966C= , CM000673.2:g.71443966C=	GRCh38
NC_000011.9:g.71155012C= , CM000673.1:g.71155012C=	GRCh37
NC_000011.8:g.70832660C=	NCBI36
NG_012655.2:g.9466G= , LRG_340:g.9466G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.321+27G=	ENSP00000435707.3:n.321+27G=
ENST00000526780.6:c.321+27G=	ENSP00000435668.2:n.321+27G=
ENST00000527316.6:c.147+27G=	ENSP00000435047.2:n.147+27G=
ENST00000682708.1:c.321+27G=	ENSP00000506866.1:n.321+27G=
ENST00000682880.1:c.321+27G=	ENSP00000507520.1:n.321+27G=
ENST00000683287.1:c.348G=	ENSP00000507607.1:p.Gly116=
ENST00000683714.1:c.321+27G=	ENSP00000508207.1:n.321+27G=
ENST00000683874.1:n.598+27G=
ENST00000685320.1:c.-265+27G=	ENSP00000509319.1:n.-265+27G=
ENST00000690257.1:c.225+27G=	ENSP00000510750.1:n.225+27G=
ENST00000355527.8:c.321+27G= MANE Select	ENSP00000347717.4:n.321+27G=
ENST00000355527.7:c.321+27G=	ENSP00000347717.3:n.321+27G=
ENST00000407721.6:c.321+27G=	ENSP00000384739.2:n.321+27G=
ENST00000526780.5:c.321+27G=	ENSP00000435668.1:n.321+27G=
ENST00000527316.5:c.225+27G=	ENSP00000435047.1:n.225+27G=
NM_001163817.1:c.321+27G=	NP_001157289.1:n.321+27G=
NM_001360.2:c.321+27G= , LRG_340t1:c.321+27G=	NP_001351.2:n.321+27G=
XM_011544777.1:c.321+27G=	XP_011543079.1:n.321+27G=
XM_011544777.2:c.321+27G=	XP_011543079.1:n.321+27G=
NM_001163817.2:c.321+27G=	NP_001157289.1:n.321+27G=
NM_001360.3:c.321+27G= MANE Select	NP_001351.2:n.321+27G=